|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
| Entrez Id: |
4194 |
| Gene Symbol: |
MDM4 |
MDM4
|
0.400 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.
|
10486322 |
1999 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
"Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al."
|
18682685 |
2008 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
|
18181215 |
2008 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.
|
22963398 |
2013 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
|
8651278 |
1996 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
|
19339519 |
2009 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.
|
22180099 |
2012 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma.
|
24336570 |
2014 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exon-by-exon screening for RB germline mutations using Heteroduplex-SSCP analysis.
|
11189328 |
1997 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.
|
28193182 |
2017 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.
|
24791139 |
2014 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability of retinocytomas: preregression and postregression growth patterns.
|
22328814 |
2012 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree.
|
20059380 |
2010 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
|
22219649 |
2011 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras.
|
18677112 |
2008 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the RB1 gene and their effects on transcription.
|
2601691 |
1989 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
|
18449911 |
2008 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
|
26530098 |
2015 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening in patients with Retinoblastoma in Israel.
|
25754945 |
2015 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Outcomes of integrating genetics in management of patients with retinoblastoma.
|
22084214 |
2011 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.
|
27582626 |
2016 |
|
| Entrez Id: |
5925 |
| Gene Symbol: |
RB1 |
RB1
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|